about
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general populationLowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi networkLowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiologyCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsMLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection.Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.Optimized Generation of Functional Neutrophils and Macrophages from Patient-Specific Induced Pluripotent Stem Cells: Ex Vivo Models of X(0)-Linked, AR22(0)- and AR47(0)- Chronic Granulomatous DiseasesXq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia.SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.A framework to identify contributing genes in patients with Phelan-McDermid syndrome.Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.Array-CGH in children with mild intellectual disability: a population-based study.7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot.Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.Epilepsy and hypothalamic hamartoma: look at the hand Pallister-Hall syndrome.Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.[Genetics of male infertility: the new players].Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.Clinical, Functional and Genetic Analysis of Twenty-Four Patients with Chronic Granulomatous Disease – Identification of Eight Novel Mutations in CYBB and NCF2 GenesWhole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagellaHyperechogenic fetal bowel: a large French collaborative study of 682 casesEnd-stage renal failure in Lowe syndromePrenatal diagnosis of DMD in a female foetus affected by Turner syndromeFrom Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypesRare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families17p13.1 microduplication in a boy with Silver-Russell syndrome features and intellectual disabilityInterphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactylyMicrodeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies
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P50
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P1053
G-2864-2014
P106
P21
P31
P4012
P496
0000-0001-7852-8591